S3S (p.Ser3Ser) variant of SMAD3 (SMAD family member 3)
S3S (p.Ser3Ser) in SMAD3 (SMAD family member 3) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
S3S (p.Ser3Ser) variant details
- p.Ser3Ser
- rs149022137
- gnomAD 15-67066163-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.493
- CADD 14.20
- Most common in the African/African-American population (allele frequency 0.00034)
- Structural context available
- Literature evidence available